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DLGAP3 DLG associated protein 3 [ Homo sapiens (human) ]

Gene ID: 58512, updated on 5-Mar-2024

Summary

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Official Symbol
DLGAP3provided by HGNC
Official Full Name
DLG associated protein 3provided by HGNC
Primary source
HGNC:HGNC:30368
See related
Ensembl:ENSG00000116544 MIM:611413; AllianceGenome:HGNC:30368
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DAP3; SAPAP3; SPAPA3
Summary
Predicted to enable PDZ domain binding activity; molecular adaptor activity; and scaffold protein binding activity. Predicted to be involved in protein-containing complex assembly and regulation of postsynaptic neurotransmitter receptor activity. Predicted to be located in synapse. Predicted to be part of postsynaptic density. Predicted to be active in several cellular components, including cholinergic synapse; glutamatergic synapse; and neuromuscular junction. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 6.5) and testis (RPKM 1.3) See more
Orthologs
mouse all
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Genomic context

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See DLGAP3 in Genome Data Viewer
Location:
1p34.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (34865436..34929650, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (34728067..34792309, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35331037..35395251, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35259863-35260017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 716 Neighboring gene gap junction protein alpha 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:35307996-35308683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:35312807-35313492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:35319252-35320122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 719 Neighboring gene small integral membrane protein 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:35350327-35351322 Neighboring gene MPRA-validated peak171 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 634 Neighboring gene G protein-coupled receptor 199, pseudogene Neighboring gene transmembrane protein 35B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Exonic resequencing of the DLGAP3 gene as a candidate gene for schizophrenia. Li JM, et al. Psychiatry Res, 2013 Jun 30. PMID 23414653
  2. Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population. Boardman L, et al. Compr Psychiatry, 2011 Mar-Apr. PMID 21295225
  3. Family-based genetic association study of DLGAP3 in Tourette Syndrome. Crane J, et al. Am J Med Genet B Neuropsychiatr Genet, 2011 Jan. PMID 21184590, Free PMC Article
  4. Multiple rare SAPAP3 missense variants in trichotillomania and OCD. Züchner S, et al. Mol Psychiatry, 2009 Jan. PMID 19096451, Free PMC Article
  5. Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study. Bienvenu OJ, et al. Am J Med Genet B Neuropsychiatr Genet, 2009 Jul 5. PMID 19051237, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Valence processing alterations in SAPAP3 knockout mice and human OCD.
    Title: Valence processing alterations in SAPAP3 knockout mice and human OCD.
  2. SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities.
    Title: SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities.
  3. several rare variants of the DLGAP3 gene were found in this study which may be associated with schizophrenia.
    Title: Exonic resequencing of the DLGAP3 gene as a candidate gene for schizophrenia.
  4. This study provides suggestive evidence that DLGAP3 and its interactive effect with SLC1A1 might be involved in susceptibility to developing OC symptoms in schizophrenia patients receiving AAP treatment.
    Title: Interaction between genetic variants of DLGAP3 and SLC1A1 affecting the risk of atypical antipsychotics-induced obsessive-compulsive symptoms.
  5. This study generated preliminary evidence to link SAPAP3 variants to the development of earlier onset obsessive-compulsive disorder.
    Title: Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population.
  6. DLGAP3 remains a promising candidate gene for Tourette Syndrome.
    Title: Family-based genetic association study of DLGAP3 in Tourette Syndrome.
  7. Sapap3 is a promising functional candidate gene for human grooming disorder (obsessive compulsive disorder).
    Title: Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study.
  8. Multiple rare SAPAP3 missense variants in trichotillomania and OCD.
    Title: Multiple rare SAPAP3 missense variants in trichotillomania and OCD.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amyloid-beta binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in modification of synaptic structure IEA
Inferred from Electronic Annotation
more info
  
involved_in modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynaptic neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signaling IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cholinergic synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in glutamatergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in neuromuscular junction IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
  
is_active_in postsynaptic specialization IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
disks large-associated protein 3
Names
DAP-3
PSD-95/SAP90-binding protein 3
SAP90/PSD-95-associated protein 3
discs large homolog associated protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001080418.3 → NP_001073887.1  disks large-associated protein 3

    See identical proteins and their annotated locations for NP_001073887.1

    Status: VALIDATED

    Source sequence(s)
    AC114490, AL122010
    Consensus CDS
    CCDS30670.1
    UniProtKB/Swiss-Prot
    O95886, Q5TDD5, Q9H3X7
    Related
    ENSP00000362444.1, ENST00000373347.6
    Conserved Domains (1) summary
    pfam03359
    Location:628 → 979
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    34865436..34929650 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541879.3 → XP_011540181.1  disks large-associated protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011540181.1

    UniProtKB/Swiss-Prot
    O95886, Q5TDD5, Q9H3X7
    Conserved Domains (1) summary
    pfam03359
    Location:628 → 979
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

  2. XM_047426631.1 → XP_047282587.1  disks large-associated protein 3 isoform X1

    UniProtKB/Swiss-Prot
    O95886, Q5TDD5, Q9H3X7

  3. XM_011541880.3 → XP_011540182.1  disks large-associated protein 3 isoform X2

    Conserved Domains (1) summary
    pfam03359
    Location:131 → 482
    GKAP; Guanylate-kinase-associated protein (GKAP) protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    34728067..34792309 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338001.1 → XP_054193976.1  disks large-associated protein 3 isoform X1

  2. XM_054338002.1 → XP_054193977.1  disks large-associated protein 3 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95886.3 GenPept UniProtKB/Swiss-Prot:O95886

Gene LinkOut

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